Mutagenetix > Incidental Mutation

Incidental Mutation 'R7830:Rmc1'

602406

Institutional Source

Beutler Lab

Gene Symbol

Rmc1

Ensembl Gene

ENSMUSG00000024410

Gene Name

regulator of MON1-CCZ1

Synonyms

3110002H16Rik

MMRRC Submission

045884-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R7830 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12301774-12323715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12301928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 24 (N24S)

Ref Sequence

ENSEMBL: ENSMUSP00000025276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025276]

AlphaFold

Q8VC42

Predicted Effect

probably benign
Transcript: ENSMUST00000025276
AA Change: N24S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025276
Gene: ENSMUSG00000024410
AA Change: N24S

Domain	Start	End	E-Value	Type
SCOP:d1crza1	21	169	5e-4	SMART
low complexity region	268	281	N/A	INTRINSIC
Pfam:Mic1	475	632	4.4e-73	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	C	10: 80,442,654 (GRCm39)	L164P	probably damaging	Het
Aldh16a1	A	T	7: 44,795,649 (GRCm39)	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,539,664 (GRCm39)	N65S	probably damaging	Het
Ankrd54	G	A	15: 78,938,250 (GRCm39)	T287I	probably damaging	Het
Bltp1	CCAGATTCATGTAGCA	CCA	3: 37,019,081 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,753,801 (GRCm39)	V108E	possibly damaging	Het
Cd200l1	A	T	16: 45,262,917 (GRCm39)	I187N	probably damaging	Het
Cntnap5c	A	T	17: 58,469,245 (GRCm39)	D609V	probably damaging	Het
Col6a4	G	T	9: 105,952,589 (GRCm39)	D436E	probably damaging	Het
Cul9	A	T	17: 46,851,237 (GRCm39)	D394E	probably benign	Het
Cyfip1	A	G	7: 55,523,210 (GRCm39)	E75G	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Eif2ak2	C	T	17: 79,173,832 (GRCm39)	G249S	probably damaging	Het
Erich4	A	T	7: 25,315,149 (GRCm39)	M42K	probably benign	Het
Fig4	A	C	10: 41,132,462 (GRCm39)	V448G	probably benign	Het
Gas1	T	C	13: 60,323,848 (GRCm39)	D303G	probably damaging	Het
Golgb1	T	G	16: 36,719,083 (GRCm39)	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,378,357 (GRCm39)	A53V	probably benign	Het
Klk1b27	A	C	7: 43,705,150 (GRCm39)	M106L	probably benign	Het
Lipc	T	C	9: 70,720,183 (GRCm39)	T190A	probably damaging	Het
Lrrc4b	A	G	7: 44,111,231 (GRCm39)	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,284 (GRCm39)	Q368L	probably benign	Het
Myo10	T	A	15: 25,738,057 (GRCm39)	Y501*	probably null	Het
Neb	T	A	2: 52,055,201 (GRCm39)	H6445L	probably benign	Het
Numa1	T	A	7: 101,648,492 (GRCm39)	M741K	probably benign	Het
Nxn	T	A	11: 76,164,819 (GRCm39)	I231F	probably damaging	Het
Or1j13	A	G	2: 36,369,392 (GRCm39)	L250P	probably damaging	Het
Or5b116	T	C	19: 13,422,985 (GRCm39)	L203S	probably benign	Het
Osbp2	A	G	11: 3,813,414 (GRCm39)	S152P	probably benign	Het
P3h4	T	C	11: 100,304,869 (GRCm39)	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,221,733 (GRCm39)	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,469,365 (GRCm39)	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057 (GRCm39)	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,574,481 (GRCm39)	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,310,000 (GRCm39)	T155I	probably benign	Het
Prune2	C	A	19: 17,100,038 (GRCm39)	N1847K	probably benign	Het
Psg21	A	T	7: 18,381,223 (GRCm39)	V440E	probably damaging	Het
Rag1	A	G	2: 101,472,404 (GRCm39)	S913P	probably damaging	Het
Ros1	T	A	10: 52,031,030 (GRCm39)	H525L	probably damaging	Het
Scarb1	T	C	5: 125,364,447 (GRCm39)	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 34,114,030 (GRCm39)	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,123,355 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,566 (GRCm39)	D299G	probably benign	Het
Sox1	G	A	8: 12,446,955 (GRCm39)	A199T	probably damaging	Het
Strc	T	A	2: 121,205,530 (GRCm39)	I867F	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Usf3	C	T	16: 44,040,142 (GRCm39)	Q1541*	probably null	Het
Wrn	G	A	8: 33,759,082 (GRCm39)	L716F	probably damaging	Het
Zfp141	G	A	7: 42,124,612 (GRCm39)	T620I	probably benign	Het
Zfp354b	A	T	11: 50,814,136 (GRCm39)	I263K	probably benign	Het
Zfp804b	T	A	5: 6,821,124 (GRCm39)	E646D	probably benign	Het
Zfp970	G	T	2: 177,167,338 (GRCm39)	C304F	probably damaging	Het

Other mutations in Rmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Rmc1	APN	18	12,312,276 (GRCm39)	missense	probably benign	0.00
IGL01883:Rmc1	APN	18	12,311,296 (GRCm39)	missense	probably benign	0.03
IGL01956:Rmc1	APN	18	12,322,407 (GRCm39)	missense	probably damaging	0.99
IGL02828:Rmc1	APN	18	12,322,278 (GRCm39)	missense	possibly damaging	0.52
IGL03147:Rmc1	APN	18	12,302,286 (GRCm39)	splice site	probably benign
R0147:Rmc1	UTSW	18	12,322,328 (GRCm39)	missense	probably damaging	0.99
R0357:Rmc1	UTSW	18	12,312,266 (GRCm39)	missense	possibly damaging	0.87
R1108:Rmc1	UTSW	18	12,314,680 (GRCm39)	missense	probably damaging	0.99
R1422:Rmc1	UTSW	18	12,314,680 (GRCm39)	missense	probably damaging	0.99
R1939:Rmc1	UTSW	18	12,313,562 (GRCm39)	missense	probably damaging	1.00
R4300:Rmc1	UTSW	18	12,321,919 (GRCm39)	missense	probably benign	0.00
R4826:Rmc1	UTSW	18	12,318,836 (GRCm39)	intron	probably benign
R5103:Rmc1	UTSW	18	12,322,319 (GRCm39)	missense	probably benign
R5345:Rmc1	UTSW	18	12,312,234 (GRCm39)	missense	probably benign
R5506:Rmc1	UTSW	18	12,322,013 (GRCm39)	unclassified	probably benign
R5566:Rmc1	UTSW	18	12,313,749 (GRCm39)	missense	possibly damaging	0.90
R5574:Rmc1	UTSW	18	12,318,063 (GRCm39)	frame shift	probably null
R5632:Rmc1	UTSW	18	12,304,640 (GRCm39)	missense	possibly damaging	0.63
R6331:Rmc1	UTSW	18	12,313,571 (GRCm39)	missense	probably damaging	0.99
R6765:Rmc1	UTSW	18	12,309,203 (GRCm39)	missense	possibly damaging	0.82
R6978:Rmc1	UTSW	18	12,318,804 (GRCm39)	missense	probably benign
R7310:Rmc1	UTSW	18	12,317,972 (GRCm39)	missense	probably benign	0.13
R7734:Rmc1	UTSW	18	12,322,320 (GRCm39)	missense	possibly damaging	0.81
R7792:Rmc1	UTSW	18	12,314,656 (GRCm39)	missense	probably damaging	1.00
R7885:Rmc1	UTSW	18	12,322,371 (GRCm39)	missense	probably damaging	1.00
R8047:Rmc1	UTSW	18	12,313,586 (GRCm39)	missense	possibly damaging	0.67
R8144:Rmc1	UTSW	18	12,318,704 (GRCm39)	critical splice acceptor site	probably null
R8157:Rmc1	UTSW	18	12,321,690 (GRCm39)	missense	possibly damaging	0.95
R8870:Rmc1	UTSW	18	12,321,618 (GRCm39)	missense	probably benign
R9457:Rmc1	UTSW	18	12,312,303 (GRCm39)	missense	probably benign	0.02
X0062:Rmc1	UTSW	18	12,312,576 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATTGGTAAGCAAGTTAGAAACC -3'
(R):5'- ACTGAGCGTCTGAAAGCCAC -3'

Sequencing Primer
(F):5'- AGTTAGAAACCAGGCTGGCCTC -3'
(R):5'- GTCTGAAAGCCACCTCGC -3'

Posted On

2019-12-03